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Deletion at the GHRHR gene locus mediated by Alu specific microhomology is associated with isolated growth hormone deficiency.
Mutation in GHRHR is associated with pituitary diseases.
Report GHRH-R labelling of apocrine glands and neoplastic epithelium in adnexal tumours and apocrine glands of the skin.
genetic association studies in pediatric population in Japan: Data suggest that mutations in ACAN (aggrecan), FGFR3 (fibroblast growth factor receptor-3), or GHRHR (growth- hormone-releasing-hormone receptor) are associated with idiopathic short stature in the population studied.
Single nucleotide variant in GHRHR gene is associated with isolated growth hormone deficiency.
GHRHR mutation is associated with growth hormone deficiency.
GH1 and GHRHR screening revealed eleven variations in 24 (21%) patients with isolated growth hormone deficiency of which, four were novel deleterious, one novel non-pathogenic and six reported changes.
The pP79L mutation is associated with the compromise in function, with the residual partial activity explaining the mild phenotype.
This is the first report to demonstrate the GHRH-R codon 72 mutation in Sri Lankan patients with confirmed growth hormone deficiency.
GHRH and GHRH-R loops are involved in placental choriocarcinoma cell line viability and apoptosis through Akt and eIF2a pathways.
This study shows that GHRH-R is expressed by the majority of malignant mixed Mullerian tumors in both epithelial and mesenchymal components
Identification of new missense mutations and an insertion mutation for the GHRHR gene in patients with isolated growth hormone deficiency.
A reduced stature in older subjects heterozygous for the c.57+1G>A GHRHR mutation, indicating different effects of heterozygosis through lifespan.
we found that pGHRH-R and its main splice variant are expressed in thyroid tissue and was upregulated in tumor cells compared to normal thyroid cells
Indel mutation in the growth hormone releasing hormone receptor gene is associated with isolated growth hormone deficiency.
These preliminary results suggest a greater than average GHRH-R expression in invasive lobular carcinomas and invasive ductal carcinomas associated with casting-type calcifications on the mammogram.
we present the results of screening for mutations in GH1 and GHRHR genes in a large cohort of Argentinian patients with IGHD. These suggest that the p.Arg183His mutation associated with the type II dominant form of IGHD might be relatively common.
Compound heterozygous mutations of the growth hormone-releasing hormone receptor gene is associated with isolated growth hormone deficiency
Genu valgum was more prevalent in growth hormone deficiency GHRHR mutation patients than controls.
We report a novel splice-disrupting mutation in GHRHR in 2 siblings and provide evidence that all c.57+1G>A (IVS1+1G>A) mutant chromosomes have the same haplotype ancestor
Data show that cardiac stem cells (CSCs) isolated from mouse, rat and pig myocardium express growth hormone-releasing hormone receptor (GHRH-R) and agonists of GHRH-R stimulate their proliferation and survival.
To ascertain whether (splice variant) SV1 mediates mitogenic effects on nonpituitary tissues, we expressed SV1 in 3T3 mouse fibroblasts and studied the properties of the transfected cells
Sleep in mice with nonfunctional growth hormone-releasing hormone receptors
GHRH receptor may be associated with carcinogenesis
Ghrhr(lit/lit) mice deficient in the GHRH receptor gene are resistant to myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis.
analysis of receptors for growth hormone-releasing hormone in human osteosarcomas and Ewing's sarcomas
Changes in the expression of genes encoding beta-LH and GnRH-R were also demonstrated across the estrous cycle in swine
The polymorphism (NM_181020:c.102C>T) of the GHRHR could be a molecular marker candidate for breeding of Nanyang cattle in favor of body weight.
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature.
, GRF receptor
, growth hormone-releasing hormone receptor
, growth hormone-releasing factor receptor
, Growth hormone - releasing receptor
, growth hormone-releasing hormone receptor precursor variant 1
, bovine growth hormone-releasing hormone receptor